PGGHG - protein-glucosylgalactosylhydroxylysine glucosidase Gene

Also Known as ATHL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80162

About PGGHG

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:289,126-296,107 (from NCBI)

This gene has 8 transcripts (splice variants) and 190 orthologues. Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues.

Summary

Enables protein-glucosylgalactosylhydroxylysine glucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PGGHG Products (1)

mRNA Protein Name
NM_025092.5 NP_079368.3 protein-glucosylgalactosylhydroxylysine glucosidase

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Verweise Source
enables protein-glucosylgalactosylhydroxylysine glucosidase activity IDA
IDA: Inferred from direct assay
26682924 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in carbohydrate metabolic process IDA
IDA: Inferred from direct assay
26682924 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PGGHG Protein Structure

Glyco_hydro_65m

Glyco_hydro_65m: Glycosyl hydrolase family 65 central catalytic domain (259 - 605)

  • 0
  • 200
  • 400
  • 600
  • 737 a.a.
Protein Preferred Names Protein Names

protein-glucosylgalactosylhydroxylysine glucosidase

  • ATH1, acid trehalase-like 1

Related Diseases

Diseases Alias
Hemophagocytic Lymphohistiocytosis, Familial, 3

  • Familial Hemophagocytic Lymphohistiocytosis 3

  • FHL3

  • Hplh3

  • Hlh3

  • Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
Hypoparathyroidism, X-Linked

  • HYPX

  • X-Linked Hypoparathyroidism

  • Parathyroid Glands, Agenesis Of

  • Agenesis Of Parathyroid Glands

  • Hypoparathyroidism X-Linked

  • Hypoparathyroidism - X-Linked
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS10382 PGGHG Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PGGHG VGNC VGNC:57356
Felis catus PGGHG VGNC VGNC:64122
Canis familiaris PGGHG VGNC VGNC:44458
Rattus norvegicus PGGHG RGD RGD:1306015
Macaca mulatta PGGHG VGNC VGNC:75870
Mus musculus PGGHG MGD MGI:2444047
Others PGGHG NCBI